Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation

Chiara Leoni, Christopher T. Gordon, Giacomo Della Marca, Valentina Giorgio, Roberta Onesimo, Francesca Perrino, Alessandro Cianfoni, Antonella Cerchiari, Jeanne Amiel, Giuseppe Zampino

Risultato della ricerca: Contributo in rivistaArticolo in rivista

6 Citazioni (Scopus)


Auriculo-Condylar Syndrome (ACS) is a craniofacial malformation syndrome characterized by external ear anomalies, hypoplasia of the mandibular condyle, temporomandibular joint abnormalities, micrognathia, and microstomia. Glossoptosis, masticatory abnormalities, orthodontic problems, and malocclusion occur in a majority of affected subjects. The clinical diagnosis is usually suggested by the pathognomonic ear appearance ("question mark ear"), consisting of a variable degree of clefting between the helix and earlobe. The genetic mechanisms underlying ACS have recently been identified. Both autosomal dominant and recessive inheritance of mutations in phospholipase C, beta 4 (PLCB4) and endothelin 1 (EDN1) have been reported along with autosomal dominant mutations in guanine nucleotide-binding protein (G protein) α inhibiting activity polypeptide 3 (GNAI3). We report 6 years of follow-up of a child with a clinical phenotype consistent with ACS due to a homozygous frameshift mutation in PLCB4. The baby presented feeding difficulties associated with failure to thrive and a complex sleep-related respiratory disorder, characterized by central and obstructive apnoeas. Our observations of this case further delineate the phenotype of ACS associated with autosomal recessive PLCB4 loss-of-function mutations, underscoring gastrointestinal dysfunction and severe sleep-related breathing abnormalities as additional features when compared to patients with heterozygous mutations with a presumed dominant negative effect.
Lingua originaleEnglish
pagine (da-a)1471-1478
Numero di pagine8
Stato di pubblicazionePubblicato - 2016


  • Auriculo-condylar syndrome
  • Child
  • Comparative Genomic Hybridization
  • Condylar hypoplasia
  • DNA Mutational Analysis
  • Ear
  • Ear Diseases
  • Facies
  • Female
  • Gastrointestinal dysfunctions
  • Genetic Association Studies
  • Genetics
  • Genetics (clinical)
  • Genotype
  • Homozygote
  • Humans
  • Karyotype
  • Magnetic Resonance Imaging
  • Mutation
  • PLCB4
  • Pedigree
  • Phenotype
  • Phospholipase C beta
  • Polysomnography
  • Question mark ear
  • Sequence Analysis, DNA
  • Sleep apnoeas


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